{ "uniprot_canonical_ac": "A0AVF1-1", "synonyms_protein_refseq": [ "intraflagellar transport protein 56 isoform 2", "tetratricopeptide repeat protein 26; TPR repeat protein 26; intraflagellar transport protein 56" ], "sequence": { "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 554, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" }, "uniprot_id": "IFT56_HUMAN", "synonyms_gene_uniprotkb": [ "TTC26", "IFT56" ], "enzyme_annotation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Intraflagellar transport protein 56; Tetratricopeptide repeat protein 26; TPR repeat protein 26", "short": "" }, "publication": [ { "title": "The intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25443296", "journal": "Developmental cell", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Liew GM, Ye F, Nager AR, Murphy JP, Lee JS, Aguiar M, Breslow DK, Gygi SP, Nachury MV", "date": "2014", "pmid": "25443296" }, { "title": "A dynein light chain is essential for the retrograde particle movement of intraflagellar transport (IFT).", "url": "https://www.ncbi.nlm.nih.gov/pubmed/9585416", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Pazour GJ, Wilkerson CG, Witman GB", "date": "1998", "pmid": "9585416" }, { "title": "Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/9585417", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Cole DG, Diener DR, Himelblau AL, Beech PL, Fuster JC, Rosenbaum JL", "date": "1998", "pmid": "9585417" }, { "title": "Functional coordination of intraflagellar transport motors.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16049494", "journal": "Nature", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Ou G, Blacque OE, Snow JJ, Leroux MR, Scholey JM", "date": "2005", "pmid": "16049494" }, { "title": "Transport of a novel complex in the cytoplasmic matrix of Chlamydomonas flagella.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/9114011", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Piperno G, Mead K", "date": "1997", "pmid": "9114011" }, { "title": "Intraflagellar transport complex structure and cargo interactions.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23945166", "journal": "Cilia", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Bhogaraju S, Engel BD, Lorentzen E", "date": "2013", "pmid": "23945166" }, { "title": "The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19112494", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Follit JA, San Agustin JT, Xu F, Jonassen JA, Samtani R, Lo CW, Pazour GJ", "date": "2008", "pmid": "19112494" }, { "title": "The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16775004", "journal": "Molecular biology of the cell", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Follit JA, Tuft RA, Fogarty KE, Pazour GJ", "date": "2006", "pmid": "16775004" }, { "title": "Kinesin motors and primary cilia.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21936775", "journal": "Biochemical Society transactions", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Verhey KJ, Dishinger J, Kee HL", "date": "2011", "pmid": "21936775" }, { "title": "Intraflagellar transport proteins cycle between the flagellum and its base.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22992454", "journal": "Journal of cell science", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Buisson J, Chenouard N, Lagache T, Blisnick T, Olivo-Marin JC, Bastin P", "date": "2013", "pmid": "22992454" }, { "title": "Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/15955805", "journal": "The Journal of biological chemistry", 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"journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Kozminski KG, Johnson KA, Forscher P, Rosenbaum JL", "date": "1993", "pmid": "8516294" }, { "title": "Ciliary targeting of olfactory CNG channels requires the CNGB1b subunit and the kinesin-2 motor protein, KIF17.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16782012", "journal": "Current biology : CB", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Jenkins PM, Hurd TW, Zhang L, McEwen DP, Brown RL, Margolis B, Verhey KJ, Martens JR", "date": "2006", "pmid": "16782012" }, { "title": "The homodimeric kinesin, Kif17, is essential for vertebrate photoreceptor sensory outer segment development.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18304522", "journal": "Developmental biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Insinna C, Pathak N, Perkins B, Drummond I, Besharse JC", "date": "2008", "pmid": "18304522" }, { "title": "Functional modulation of IFT kinesins extends the sensory repertoire of ciliated neurons in Caenorhabditis elegans.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16492809", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Evans JE, Snow JJ, Gunnarson AL, Ou G, Stahlberg H, McDonald KL, Scholey JM", "date": "2006", "pmid": "16492809" }, { "title": "The intraflagellar transport machinery of Chlamydomonas reinhardtii.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12795688", "journal": "Traffic (Copenhagen, Denmark)", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Cole DG", "date": "2003", "pmid": "12795688" }, { "title": "An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/27173435", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "authors": "Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R", "date": "2016", "pmid": "27173435" }, { "title": "Getting tubulin to the tip of the cilium: one IFT train, many different tubulin cargo-binding sites?", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24616010", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Bhogaraju S, Weber K, Engel BD, Lechtreck KF, Lorentzen E", "date": "2014", "pmid": "24616010" }, { "title": "Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19720863", "journal": "Genetics", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Iomini C, Li L, Esparza JM, Dutcher SK", "date": "2009", "pmid": "19720863" }, { "title": "Intraflagellar transport motors in cilia: moving along the cell's antenna.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18180368", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Scholey JM", "date": "2008", "pmid": "18180368" }, { "title": "Evolution of intraflagellar transport from coated vesicles and autogenous origin of the eukaryotic cilium.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16435301", "journal": "BioEssays : news and reviews in molecular, cellular and developmental biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Jekely G, Arendt D", "date": "2006", "pmid": "16435301" }, { "title": "An essential role for DYF-11/MIP-T3 in assembling functional intraflagellar transport complexes.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18369462", "journal": "PLoS genetics", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Li C, Inglis PN, Leitch CC, Efimenko E, Zaghloul NA, Mok CA, Davis EE, Bialas NJ, Healey MP, Heon E, Zhen M, Swoboda P, Katsanis N, Leroux MR", "date": "2008", "pmid": "18369462" }, { "title": "The Chlamydomonas kinesin-like protein FLA10 is involved in motility associated with the flagellar membrane.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/8522608", "journal": "The Journal of cell biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" } ], "authors": "Kozminski KG, Beech PL, Rosenbaum JL", "date": "1995", "pmid": "8522608" } ], "uniprot_ac": "A0AVF1", "synonyms_gene_refseq": [ "TTC26", "dyf-13; DYF13; IFT56" ], "mutation": [ { "sequence_org": "A", "subjects_tested": "558", "subjects_positive": "1", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "T", "start_pos": 221, "end_pos": 221, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "E", "subjects_tested": "162", "subjects_positive": "1", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.6", "sequence_mut": "K", "start_pos": 81, "end_pos": 81, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "E", "subjects_tested": "558", "subjects_positive": "2", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "K", "start_pos": 81, "end_pos": 81, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "E", "subjects_tested": "820", "subjects_positive": "1", "disease": { "doid": "4159", "url": "http://disease-ontology.org/term/DOID:4159", "icd10": "", "name": "Skin cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "K", "start_pos": 81, "end_pos": 81, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "A", "subjects_tested": "1044", "subjects_positive": "2", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "T", "start_pos": 221, "end_pos": 221, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "A", "subjects_tested": "678", "subjects_positive": "1", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "T", "start_pos": 221, "end_pos": 221, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." } ], "synonyms_protein_uniprotkb": [ "Intraflagellar transport protein 56", "Tetratricopeptide repeat protein 26", "TPR repeat protein 26" ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#F8WEZ4-1", "isoform_ac": "F8WEZ4-1", "locus": { "end_pos": 139133858, "start_pos": 139146989, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000476296", "id": "ENST00000476296", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419639", "id": "ENSP00000419639", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|F8WEZ4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 135, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKEK" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z6R6-1", "isoform_ac": "B7Z6R6-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000478836", "id": "ENST00000478836", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419178", "id": "ENSP00000419178", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7Z6R6-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 447, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#B7Z2T3-1", "isoform_ac": "B7Z2T3-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000495038", "id": "ENST00000495038", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418788", "id": "ENSP00000418788", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B7Z2T3-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 423, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-2", "isoform_ac": "A0AVF1-2", "locus": { "end_pos": 139133858, "start_pos": 139189362, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000430935", "id": "ENST00000430935", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410655", "id": "ENSP00000410655", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVF1-2|IFT56_HUMAN Isoform 2 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 487, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKRDPSRSAPFTEKHR" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-3", "isoform_ac": "A0AVF1-3", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000343187", "id": "ENST00000343187", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000339135", "id": "ENSP00000339135", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVF1-3|IFT56_HUMAN Isoform 3 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 523, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#A0AVF1-1", "isoform_ac": "A0AVF1-1", "locus": { "end_pos": 139133858, "start_pos": 139189429, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000464848", "id": "ENST00000464848", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419279", "id": "ENSP00000419279", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A0AVF1-1|IFT56_HUMAN Isoform 1 of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 554, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEAFLLIQSEKMKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMIIAGREPKETLREVLHLLRSTGNTQVEYMIRIMKKWAKENRVSI" } }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#Q96CU4-1", "isoform_ac": "Q96CU4-1", "locus": { "end_pos": 139133858, "start_pos": 139161043, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000474035", "id": "ENST00000474035", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000443253", "id": "ENSP00000443253", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q96CU4-1|IFT56_HUMAN Computationally mapped isoform of Intraflagellar transport protein 56 OS=Homo sapiens OX=9606 GN=TTC26 PE=2 SV=1 CANONICAL=A0AVF1-1", "length": 271, "sequence": "MMLSRAKPAVGRGVQHTDKRKKKGRKIPKLEELLSKRDFTGAITLLEFKRHVGEEEEDTNLWIGYCAFHLGDYKRALEEYENATKEENCNSEVWVNLACTYFFLGMYKQAEAAGFKASKSRLQNRLLFHLAHKFNDEKKLMSFHQNLQDVTEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGRAAEAELKSLMDNASSSFEFAKELIRHNLVNNDFPS" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "resource": "Reactome", "id": "R-HSA-5620924", "name": "Intraflagellar transport" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79989", "resource": "KEGG Pathway", "id": "hsa:79989", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "annotation": "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A0AVF1#function", "annotation": "Component of the intraflagellar transport (IFT) complex B required for transport of proteins in the motile cilium. Required for transport of specific ciliary cargo proteins related to motility, while it is neither required for IFT complex B assembly or motion nor for cilium assembly. Required for efficient coupling between the accumulation of GLI2 and GLI3 at the ciliary tips and their dissociation from the negative regulator SUFU. Plays a key role in maintaining the integrity of the IFT complex B and the proper ciliary localization of the IFT complex B components. Not required for IFT complex A ciliary localization or function. Essential for maintaining proper microtubule organization within the ciliary axoneme.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1#function", "id": "A0AVF1", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "annotation": "TTC26 is an intraflagellar transport protein required for transport of motility-related proteins into flagella. Erratum:[Elife. 2014 Apr 01;3:e02897. PMID: 24692455] Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BS45-1", "protein_name": "Intraflagellar transport protein 56; Tetratricopeptide repeat protein 26; TPR repeat protein 26; Protein hop-sterile", "sequence": { "length": 554, "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEDDTNLWIGYCAFHLGDYKRALEEYENATKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0AVF1/", "id": "A0AVF1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11786", "id": "11786", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q5U2N8-1", "protein_name": "Intraflagellar transport protein 56; Tetratricopeptide repeat protein 26; TPR repeat protein 26", "sequence": { "length": 554, "sequence": "MMLSRAKPAVGGESPHTDKRKKKGRKIPKLEDLLSQRDFTGAITLLEFKRHVGEQEEDTNLWIGYCAFHLGDYKRALEEYENAAKEENCNPEVWVNLACTYFFLGMYKQAEAAGFKAPKSRLQNRLLFHLAHKFNDEKKLMNFHQNLQDIKEDQLSLASIHYMRSHYQEAIDIYKRILLDNREYLALNVYVALCYYKLDYYDVSQEVLAVYLQQIPDSTIALNLKACNHFRLYNGKAAEAELKSLMDNASSPFEFAKELIRHNLVVFRGGEGALQVLPPLVDVIPEARLNLVIYYLRQDDVQEAYNLIKDLEPTTPQEYILKGVVNAALGQEMGSRDHMKIAQQFFQLVGGSASECDTIPGRQCMASCFFLLKQFDDVLIYLNSFKSYFYNDDIFNFNYAQAKAATGNTSEGEEVFLLIQSEKLKNDYIYLSWLARCYIMNKKPRLAWELYLKMETSGESFSLLQLIANDCYKMGQFYYSAKAFDVLERLDPNPEYWEGKRGACVGIFQMILAGREPKETLREVLHLLRSTGNTQVEYIIRIMKKWAKENRVPI" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0AVF1/", "id": "A0AVF1", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/11786", "id": "11786", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "synthesized_glycans": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "ac": "NP_001138392.1", "name": "intraflagellar transport protein 56 isoform 2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120170", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport particle B binding", "id": "GO:0120170" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "ciliary basal body", "id": "GO:0036064" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097546", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "ciliary base", "id": "GO:0097546" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005813", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "centrosome", "id": "GO:0005813" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "cilium", "id": "GO:0005929" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030992", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport particle B", "id": "GO:0030992" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097542", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "ciliary tip", "id": "GO:0097542" } ], "total": 6, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035735", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport involved in cilium assembly", "id": "GO:0035735" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035720", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary anterograde transport", "id": "GO:0035720" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060271", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "cilium assembly", "id": "GO:0060271" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007224", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "smoothened signaling pathway", "id": "GO:0007224" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042073", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "intraciliary transport", "id": "GO:0042073" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061512", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "protein localization to cilium", "id": "GO:0061512" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035082", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "axoneme assembly", "id": "GO:0035082" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905198", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "id": "A0AVF1", "database": "UniProtKB" } ], "name": "manchette assembly", "id": "GO:1905198" } ], "total": 8, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 410, "annotation": "n_glycosylation_sequon", "start_pos": 408 }, { "end_pos": 250, "annotation": "n_glycosylation_sequon", "start_pos": 248 }, { "end_pos": 84, "annotation": "n_glycosylation_sequon", "start_pos": 82 } ], "crossref": [ { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011990", "id": "IPR011990", "database": "InterPro" }, { "url": "http://www.orthodb.org/?query=383516at2759", "id": "383516at2759", "database": "OrthoDB" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0AVF1", "id": "A0AVF1", "database": "BioMuta" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:79989", "id": "hsa:79989", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019734", "id": "IPR019734", "database": "InterPro" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=21882", "id": "21882", "database": "HGNC" }, { "url": "https://www.nextprot.org/entry/NX_A0AVF1", "id": "NX_A0AVF1", "database": "neXtProt" }, { "url": "http://www.omim.org/entry/617453", "id": "617453", "database": "MIM" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14781", "id": "PTHR14781", "database": "PANTHER" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0AVF1*", "id": "A0AVF1", "database": "IntAct" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0AVF1", "id": "PR_A0AVF1", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/79989", "id": "79989", "database": "GeneID" }, { "url": "https://omabrowser.org/oma/group/CAEFWVA/", "id": "CAEFWVA", "database": "OMA" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TTC26", "id": "TTC26", "database": "GeneCards" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR030511", "id": "IPR030511", "database": "InterPro" }, { "url": "https://pharos.nih.gov/targets/A0AVF1", "id": "A0AVF1", "database": "PHAROS" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5620924", "id": "R-HSA-5620924", "database": "Reactome" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013026", "id": "IPR013026", "database": "InterPro" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138392.1", "id": "NP_001138392.1", "database": "RefSeq" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "icd10": "C61", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "icd10": "C22.0", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "Yes" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "Lung squamous cell carcinoma" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "icd10": "C73", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "icd10": "C67", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Up", "icd10": "C15.3", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0AVF1", "id": "A0AVF1", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "Yes" } ], "glycosylation": [], "disease": [], "mass": { "monoisotopic_mass": 64178.0, "chemical_mass": 64178.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105948", "id": "ENSG00000105948", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0AVF1", "": "", "name": "dyf-13; DYF13; IFT56; TTC26; IFT56", "locus": { "end_pos": 139191986, "start_pos": 139133744, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000105948", "id": "ENSG00000105948", "database": "Ensembl Gene" } ] } } ] }